Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021

被引：615

作者：

Daly, Mary B. ^{[1
]}

Pal, Tuya ^{[2
]}

Berry, Michael P. ^{[3
]}

Buys, Saundra S. ^{[4
]}

Dickson, Patricia ^{[5
,6
]}

Domchek, Susan M. ^{[7
]}

Elkhanany, Ahmed ^{[8
]}

Friedman, Susan ^{[9
]}

Goggins, Michael ^{[10
]}

Hutton, Mollie L. ^{[11
]}

Karlan, Beth Y. ^{[12
]}

Khan, Seema ^{[13
]}

Klein, Catherine ^{[14
]}

Kohlmann, Wendy ^{[4
]}

Kurian, Allison W. ^{[15
]}

Laronga, Christine ^{[16
]}

Litton, Jennifer K. ^{[17
]}

Mak, Julie S. ^{[18
]}

Menendez, Carolyn S. ^{[19
]}

Merajver, Sofia D. ^{[20
]}

Norquist, Barbara S. ^{[21
]}

Offit, Kenneth ^{[22
]}

Pederson, Holly J. ^{[23
,24
]}

Reiser, Gwen ^{[25
]}

Senter-Jamieson, Leigha ^{[26
,27
]}

Shannon, Kristen Mahoney ^{[28
]}

Shatsky, Rebecca ^{[29
]}

Visvanathan, Kala ^{[10
]}

Weitzel, Jeffrey N. ^{[30
]}

Wick, Myra J. ^{[31
]}

Wisinski, Kari B. ^{[32
]}

Yurgelun, Matthew B. ^{[33
]}

Darlow, Susan D. ^{[34
]}

Dwyer, Mary A. ^{[34
]}

机构：

[1] Fox Chase Canc Ctr, 7701 Burholme Ave, Philadelphia, PA 19111 USA

[2] Vanderbilt Ingram Canc Ctr, Nashville, TN USA

[3] Univ Tennessee, Ctr Hlth Sci, St Jude Childrens Res Hosp, Knoxville, TN USA

[4] Univ Utah, Huntsman Canc Inst, Salt Lake City, UT 84112 USA

[5] Barnes Jewish Hosp, Siteman Canc Ctr, St Louis, MO 63110 USA

[6] Washington Univ, Sch Med, St Louis, MO USA

[7] Univ Penn, Abramson Canc Ctr, Philadelphia, PA 19104 USA

[8] ONeal Comprehens Canc Ctr UAB, Birmingham, AL USA

[9] FORCE Facing Our Risk Canc Empowered, Tampa, FL USA

[10] Sidney Kimmel Comprehens Canc Ctr Johns Hopkins, Baltimore, MD USA

[11] Roswell Park Comprehens Canc Ctr, Buffalo, NY USA

[12] Univ Calif Los Angeles, Jonsson Comprehens Canc Ctr, Los Angeles, CA 90024 USA

[13] Northwestern Univ, Robert H Lurie Comprehens Canc Ctr, Evanston, IL 60208 USA

[14] Univ Colorado, Ctr Canc, Boulder, CO 80309 USA

[15] Stanford Canc Inst, Stanford, CA USA

[16] H Lee Moffitt Canc Ctr & Res Inst, Tampa, FL USA

[17] Univ Texas MD Anderson Canc Ctr, Houston, TX 77030 USA

[18] UCSF Helen Diller Family Comprehens Canc Ctr, San Francisco, CA USA

[19] Duke Canc Inst, Durham, NC USA

[20] Univ Michigan, Rogel Canc Ctr, Ann Arbor, MI 48109 USA

[21] Fred Hutchinson Canc Res Ctr, Seattle Canc Care Alliance, 1124 Columbia St, Seattle, WA 98104 USA

[22] Mem Sloan Kettering Canc Ctr, 1275 York Ave, New York, NY 10021 USA

[23] Univ Hosp Seidman Canc Ctr, Case Comprehens Canc Ctr, Cleveland, OH USA

[24] Cleveland Clin, Taussig Canc Inst, Cleveland, OH 44106 USA

[25] Fred & Pamela Buffett Canc Ctr, Omaha, NE USA

[26] Ohio State Univ, Comprehens Canc Ctr, James Canc Hosp, Columbus, OH 43210 USA

[27] Solove Res Inst, Columbus, OH 43210 USA

[28] Massachusetts Gen Hosp, Ctr Canc, Boston, MA USA

[29] Univ Calif San Diego, Moores Canc Ctr, San Diego, CA USA

[30] City Hope Natl Med Ctr, 1500 E Duarte Rd, Duarte, CA 91010 USA

[31] Mayo Clin, Ctr Canc, Rochester, MN USA

[32] Univ Wisconsin, Carbone Canc Ctr, Madison, WI 53706 USA

[33] Dana Farber Brigham & Womens Canc Ctr, Boston, MA USA

[34] Natl Comprehens Canc Network, Plymouth Meeting, PA USA

来源：

JOURNAL OF THE NATIONAL COMPREHENSIVE CANCER NETWORK | 2021年 / 19卷 / 01期

关键词：

BRCA2 MUTATION CARRIERS; REDUCING SALPINGO-OOPHORECTOMY; LI-FRAUMENI-SYNDROME; PREIMPLANTATION GENETIC DIAGNOSIS; BILATERAL PROPHYLACTIC MASTECTOMY; SURGICAL ADJUVANT BREAST; ORAL-CONTRACEPTIVE USE; HORMONE REPLACEMENT THERAPY; UTERINE SEROUS CARCINOMA; HIGH FAMILIAL RISK;

D O I：

10.6004/jnccn.2021.0001

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic focus primarily on assessment of pathogenic or likely pathogenic variants associated with increased risk of breast, ovarian, and pancreatic cancer and recommended approaches to genetic testing/counseling and management strategies in individuals with these pathogenic or likely pathogenic variants. This manuscript focuses on cancer risk and risk management for BRCA-related breast/ovarian cancer syndrome and Li-Fraumeni syndrome. Carriers of a BRCA1/2 pathogenic or likely pathogenic variant have an excessive risk for both breast and ovarian cancer that warrants consideration of more intensive screening and preventive strategies. There is also evidence that risks of prostate cancer and pancreatic cancer are elevated in these carriers. Li-Fraumeni syndrome is a highly penetrant cancer syndrome associated with a high lifetime risk for cancer, including soft tissue sarcomas, osteosarcomas, premenopausal breast cancer, colon cancer, gastric cancer, adrenocortical carcinoma, and brain tumors.

引用

页码：77 / 102

页数：26

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